Review
Peripheral Vascular Disease
Masayuki Kuroda, Hideaki Bujo, Koutaro Yokote, Takeyoshi Murano, Takashi Yamaguchi, Masatsune Ogura, Katsunori Ikewaki, Masahiro Koseki, Yasuo Takeuchi, Atsuko Nakatsuka, Mika Hori, Kota Matsuki, Takashi Miida, Shinji Yokoyama, Jun Wada, Mariko Harada-Shiba
Summary: Lecithin cholesterol acyltransferase (LCAT) deficiency can lead to familial LCAT deficiency (FLD) and fish-eye disease (FED), which lack esterification activity on different lipoproteins. Dysregulation of LCAT function results in abnormal plasma lipoproteins, leading to tissue/cell lipid accumulation and organ dysfunction.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2021)
Article
Biochemistry & Molecular Biology
Chiara Pavanello, Alice Ossoli, Arianna Strazzella, Patrizia Rise, Fabrizio Veglia, Marie Lhomme, Paolo Parini, Laura Calabresi
Summary: Mutations in the LCAT gene lead to familial LCAT deficiency, resulting in reduced CE plasma levels. Carriers of two mutant LCAT alleles show significant reduction in CE plasma levels, with enrichment of saturated fatty acids observed. This study highlights the origin of CEs in apoB-containing lipoproteins in the absence of LCAT-derived CEs.
JOURNAL OF LIPID RESEARCH
(2022)
Article
Endocrinology & Metabolism
Alice Ossoli, Arianna Strazzella, Daniela Rottoli, Cristina Zanchi, Monica Locatelli, Carlamaria Zoja, Sara Simonelli, Fabrizio Veglia, Ronald Barbaras, Cyrille Tupin, Jean-Louis Dasseux, Laura Calabresi
Summary: The study investigated the impact of CER-001 on LCAT deficiency, revealing that CER-001 treatment reduced total cholesterol and triglycerides while increasing HDL-c levels in Lcat(-/-) mice. In a mouse model of renal disease in LCAT deficiency, treatment with CER-001 not only improved lipid profiles but also limited renal damage.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2021)
Article
Genetics & Heredity
Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
Summary: LAL-D is a lysosomal storage disorder that is often underdiagnosed or misdiagnosed due to similar clinical and laboratory findings with other cholesterol or liver dysfunctions. In a comprehensive familial hypercholesterolemia (FH) screening in Slovenia, LAL-D was screened as a secondary condition, and three children were identified with LAL-D through genetic analysis. Early treatment resulted in improved cholesterol and transaminase levels as well as liver steatosis in these children.
FRONTIERS IN GENETICS
(2022)
Review
Ophthalmology
Sepehr Feizi, Mohammad Ali Javadi, Mohammadhasan Alemzadeh-Ansari, Amir Arabi, Toktam Shahraki, Ahmad Kheirkhah
Summary: Vernal keratoconjunctivitis (VKC) is a chronic allergic conjunctivitis that can lead to long-term visual impairment due to corneal complications. Management includes medical treatment and prevention of recurrences, with surgical intervention if necessary for corneal involvement.
Article
Biochemistry & Molecular Biology
Min-Kyeung Choi, Minh Thong Le, Hye-Sun Cho, Juyoung Lee, Hyoim Jeon, Se-Yeoun Cha, Manheum Na, Taehoon Chun, Jin-Hoi Kim, Hyuk Song, Chankyu Park
Summary: The study on PG1 transgenic mice showed positive effects in resisting Staphylococcus aureus infection, with reduced lung injury, improved bacteria clearance, and lower inflammation. However, some individuals developed eye problems, indicating the importance of AMP expression regulation and localization to prevent adverse effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Baiba K. Gillard, Corina Rosales, Antonio M. Gotto Jr, Henry J. Pownall
Summary: Several large studies have shown that elevated plasma HDL-cholesterol is associated with increased mortality. Therefore, it is important to measure free cholesterol and cholesteryl esters in clinical trials, especially in the setting of high plasma HDL.
CURRENT OPINION IN LIPIDOLOGY
(2023)
Review
Ophthalmology
Murugesan Vanathi, Nimmy Raj, Rakhi Kusumesh, Neelima Aron, Noopur Gupta, Radhika Tandon
Summary: Managing pediatric corneal disorders is challenging, but advancements in genetics and research provide a better understanding. Although surgical techniques are improving, there are still many concerns with corneal transplantation in infants and children.
SURVEY OF OPHTHALMOLOGY
(2022)
Article
Pharmacology & Pharmacy
Shining Loo, Antony Kam, James P. Tam
Summary: This study demonstrates that the plant-derived EGFR agonist bleogen pB1 can accelerate corneal wound healing and reduce corneal scarring. The agonist decreases inflammatory responses and inhibits myofibroblast accumulation.
FRONTIERS IN PHARMACOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Anastasia Poznyak, Larisa Litvinova, Paolo Poggio, Alexander N. Orekhov, Alexandra A. Melnichenko
Summary: Lipid metabolism alterations play a significant role in the development of atherosclerosis, and familial hypercholesterolaemia is a common cause associated with increased risk of atherosclerosis.
Article
Medical Laboratory Technology
Abdellah Tebani, Benedicte Sudrie-Arnaud, Hela Boudabous, Anais Brassier, Rodolphe Anty, Sarah Snanoudj, Armand Abergel, Marie-Therese Abi Warde, Edouard Bardou-Jacquet, Reda Belbouab, Eloi Blanchet, Corinne Borderon, Jean-Pierre Bronowicki, Bertrand Cariou, Claire Carette, Myriam Dabbas, Helene Dranguet, Victor de Ledinghen, Jean Ferrieres, Maeva Guillaume, Michel Krempf, Florence Lacaille, Dominique Larrey, Vincent Leroy, Marietta Musikas, Eric Nguyen-Khac, Denis Ouzan, Jean-Marc Perarnau, Carine Pilon, Vlad Ratzlu, Alice Thebaut, Thierry Thevenot, Isabelle Tragin, Valerie Triolo, Bruno Verges, Sabrina Vergnaud, Soumeya Bekri
Summary: This study identified a series of patients with LALD through LAL activity assessment and molecular study, expanding the knowledge of the molecular spectrum of the disease. A new screening criteria grid has been proposed based on clinical/biological data to enhance the diagnosis rate in at-risk populations.
CLINICA CHIMICA ACTA
(2021)
Review
Cardiac & Cardiovascular Systems
Samuel S. Gidding, Albert Wiegman, Urh Groselj, Tomas Freiberger, Noel Peretti, Kanika Dharmayat, Magdalena Daccord, Nicola Bedlington, Jaka Sikonja, Kausik K. Ray, Raul D. Santos, Martin Halle, Lale Tokgozoglu, Inaki Gutierrez-Ibarluzea, Fausto J. Pinto, Marius Geanta
Summary: Familial hypercholesterolaemia (FH) is often overlooked and undertreated in Europe, resulting in increased risk of premature heart disease. Early treatment is effective in preventing heart disease and cost-effective. The European Commission Public Health Best Practice Portal recognizes FH screening as an effective strategy. Model programs in Europe employ cascade screening, universal screening, opportunistic screening, or a combination of these approaches to identify young individuals with FH. Recommendations to improve FH identification emphasize the need for screening programs in every country, adapted to fit the healthcare system, with financial support from governments and further research for optimization.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Biology
Edward B. Neufeld, Lita A. Freeman, Vinay Durbhakula, Maureen L. Sampson, Robert D. Shamburek, Sotirios K. Karathanasis, Alan T. Remaley
Summary: Lipoprotein-X is a toxic particle enriched in cholesterol that causes kidney disease and liver disease. Current detection methods are unstable and time-consuming, but we have developed a simple and efficient method to label and stabilize lipoprotein-X particles, which can be used for clinical diagnosis and treatment monitoring.
Review
Biochemistry & Molecular Biology
Cecilia Vitali, Daniel J. Rader, Marina Cuchel
Summary: The review summarizes the rare genetic lecithin:cholesterol acyltransferase (LCAT) deficiency, which presents as two different syndromes: Familial LCAT deficiency (FLD) and Fish-eye disease (FED). FLD is characterized by low HDL-C, corneal opacity, anaemia, and renal disease. The review discusses the recent advances in potential therapeutics for FLD, including LCAT activators and HDL mimetics, and emphasizes the need for identifying efficacy endpoints and personalized treatments based on the clinical characteristics of individual patients.
CURRENT OPINION IN LIPIDOLOGY
(2023)
Article
Ophthalmology
Dhivya Ashok Kumar, Amar Agarwal, Radhika Chandrasekar, Raja M. Chinnappan
Summary: This study analyzed the morphological outcomes of posterior corneal opacity or semilunar sign in noninfectious anterior scleritis using multimodal imaging. The results showed that the semilunar sign affected the peripheral cornea without causing functional abnormalities. Multimodal analysis can assist in clinical assessment and severity determination.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2022)
